Congestive heart failure, and Migraine
Diseases related with Congestive heart failure and Migraine
In the following list you will find some of the most common rare diseases related to Congestive heart failure and Migraine that can help you solving undiagnosed cases.
Top matches:
Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations ({106070}, {108010}). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent.Capillary hemangiomas (OMIM ) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Mulliken and Young, 1988). Genetic Heterogeneity of CCMCCM2 (OMIM ) is caused by mutation in the CCM2/malcavernin gene (OMIM ), and CCM3 (OMIM ) is caused by mutation in the PDCD10 gene (OMIM ).Evidence suggests that a 2-hit mechanism involving biallelic germline and somatic mutations is responsible for CCM1 pathogenesis, see PATHOGENESIS and MOLECULAR GENETICS sections.
CEREBRAL CAVERNOUS MALFORMATIONS; CCM Is also known as cam|cerebral capillary malformations|cavernous angiomatous malformations|cavernous angioma, familial
Related symptoms:
- Seizures
- Muscle weakness
- Hepatomegaly
- Congestive heart failure
- Headache
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CEREBRAL CAVERNOUS MALFORMATIONS; CCM
Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.
HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht|rendu-osler disease|rendu-osler-weber disease
Related symptoms:
- Seizures
- Congestive heart failure
- Cirrhosis
- Hepatic failure
- Hematuria
SOURCES:
ORPHANET
MENDELIAN
More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease
Related symptoms:
- Seizures
- Anemia
- Hypertension
- Congestive heart failure
- Headache
SOURCES:
OMIM
MENDELIAN
More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.
ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol
Related symptoms:
- Seizures
- Hearing impairment
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about ATTRV30M AMYLOIDOSIS
Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
Related symptoms:
- Hearing impairment
- Ataxia
- Neoplasm
- Anemia
- Peripheral neuropathy
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about WALDENSTRÖM MACROGLOBULINEMIA
Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.
KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome
Related symptoms:
- Sensorineural hearing impairment
- Ptosis
- Fever
- Fatigue
- Edema
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about KAWASAKI DISEASE
Medium match MERRF
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.
MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about MERRF
Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Scoliosis
- Growth delay
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about ISOLATED COMPLEX I DEFICIENCY
Medium match MELAS
MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.
MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about MELAS
Top 5 symptoms//phenotypes associated to Congestive heart failure and Migraine
Symptoms // Phenotype |
% cases |
Seizures |
Common - Between 50% and 80% cases
|
Headache |
Common - Between 50% and 80% cases
|
Stroke |
Common - Between 50% and 80% cases
|
Renal insufficiency |
Uncommon - Between 30% and 50% cases
|
Anemia |
Uncommon - Between 30% and 50% cases
|
Accelerate your rare disease diagnosis with us
Learn more
Other less frequent symptoms
Patients with Congestive heart failure and Migraine. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Muscle weakness
Hearing impairment
Ataxia
Sensorineural hearing impairment
Fever
Cardiomyopathy
Diarrhea
Peripheral neuropathy
Fatigue
Cerebral hemorrhage
Vomiting
Hepatomegaly
Developmental regression
Transient ischemic attack
Malabsorption
Respiratory insufficiency
Abnormality of the liver
Intellectual disability
Dementia
Ptosis
Arrhythmia
Nephropathy
Weight loss
Myoclonus
Acidosis
Hypertrophic cardiomyopathy
Mental deterioration
Lactic acidosis
Optic atrophy
Generalized myoclonic seizures
Edema
Left ventricular hypertrophy
Exercise intolerance
Ragged-red muscle fibers
Ischemic stroke
Myopathy
Cognitive impairment
Skeletal muscle atrophy
Polyneuropathy
Hyporeflexia
Muscular hypotonia
Short stature
Global developmental delay
Areflexia
Vasculitis
Nystagmus
Gliosis
Spasticity
Visual impairment
Coma
Tremor
Proteinuria
Mitochondrial myopathy
Increased serum lactate
Dyspnea
Hypertension
Abnormal cerebellum morphology
Hepatic failure
Hematuria
Gastrointestinal hemorrhage
Epistaxis
Pulmonary arterial hypertension
Cerebellar atrophy
Growth delay
Wolff-Parkinson-White syndrome
Increased CSF lactate
Stroke-like episode
Visual loss
Encephalopathy
Rare Symptoms - Less than 30% cases
EMG abnormality
Premature birth
Respiratory distress
Blindness
Dystonia
Abdominal pain
Nephrotic syndrome
Brain atrophy
Jaundice
Lymphoproliferative disorder
Hyperthyroidism
Myalgia
Stage 5 chronic kidney disease
Apnea
Feeding difficulties in infancy
Multiple lipomas
Reduced consciousness/confusion
Dysphagia
Ophthalmoparesis
Vertigo
Psychomotor deterioration
Glomerulopathy
Focal segmental glomerulosclerosis
Recurrent infections
Pallor
Autoimmunity
Failure to thrive
Lymphadenopathy
Hyperreflexia
Lymphoma
Memory impairment
Anorexia
Purpura
Cranial nerve paralysis
Elevated erythrocyte sedimentation rate
Chronic kidney disease
Feeding difficulties
Cardiorespiratory arrest
Irritability
Status epilepticus
Neurological speech impairment
Pancreatitis
Hypogonadism
Decreased activity of mitochondrial respiratory chain
EEG abnormality
Right ventricular cardiomyopathy
Gait imbalance
External ophthalmoplegia
Generalized tonic-clonic seizures
Depressivity
Ophthalmoplegia
Abnormality of movement
Progressive external ophthalmoplegia
Hepatic steatosis
Adrenal insufficiency
Aphasia
Generalized-onset seizure
Elevated serum creatine phosphokinase
Cardiac arrest
Abnormality of mitochondrial metabolism
Nausea and vomiting
Lethargy
Hypothyroidism
Erythema
Pneumonia
Kyphosis
Basal ganglia calcification
Hyperkinesis
Hepatitis
Ventricular hypertrophy
Hyponatremia
Tubulointerstitial nephritis
Short neck
Intrauterine growth retardation
Motor delay
Abnormal facial shape
Pigmentary retinopathy
Abnormality of the dentition
Cerebral ischemia
Portal hypertension
Cardiomegaly
Paresthesia
Cyanosis
Nausea
Cerebral calcification
Telangiectasia
Hallucinations
Hemiparesis
Bilateral sensorineural hearing impairment
Cachexia
Dilatation
Hemoptysis
Conjunctival telangiectasia
Venous malformation
Cholecystitis
Spontaneous hematomas
Cavernous hemangioma
Peripheral axonal neuropathy
Atrioventricular block
Arthritis
Atherosclerosis
Constipation
Esophageal varix
Dysarthria
Pericardial effusion
Pulmonary embolism
Pain
Subarachnoid hemorrhage
Coronary artery aneurysm
Cirrhosis
Abnormality of the vasculature
Febrile seizures
Metabolic acidosis
Progressive cerebellar ataxia
Abnormality of the cerebellar vermis
Renal Fanconi syndrome
Leukodystrophy
Horizontal nystagmus
Tubulointerstitial abnormality
Aspiration
Psychotic episodes
Optic disc pallor
Congenital diaphragmatic hernia
Coarctation of aorta
Wide anterior fontanel
Shock
Aplasia/Hypoplasia of the cerebellum
Leukoencephalopathy
Writer's cramp
Ileus
Hemianopia
Severe lactic acidosis
Abnormality of the renal tubule
Episodic vomiting
Corpus callosum atrophy
Motor polyneuropathy
Dysesthesia
Nemaline bodies
Aspiration pneumonia
Muscle fiber atrophy
Persistence of primary teeth
Incoordination
Progressive encephalopathy
Optic neuropathy
Renal tubular acidosis
Leber optic atrophy
Weak cry
Poor eye contact
Progressive spasticity
Global brain atrophy
Oral-pharyngeal dysphagia
Amaurosis fugax
Auditory hallucinations
Abnormal nerve conduction velocity
Gastroparesis
Limb muscle weakness
Crohn's disease
Morphological abnormality of the vestibule of the inner ear
Talipes equinovarus
Abnormality of acid-base homeostasis
Macrocephaly
Strabismus
Episodic quadriplegia
Micrognathia
Bilateral intracranial calcifications
Generalized hypotonia
Lateral displacement of the femoral head
Nephrosclerosis
Anterior pituitary dysgenesis
Premature arteriosclerosis
Moyamoya phenomenon
Atrial septal defect
Abnormal immunoglobulin level
Abnormal T cell morphology
Encephalomalacia
Increased thyroid-stimulating hormone level
Shallow acetabular fossae
Morphological abnormality of the inner ear
Steroid-resistant nephrotic syndrome
Multiple lentigines
Mucopolysacchariduria
Hypoplasia of the capital femoral epiphysis
Arteriosclerosis
Cellular immunodeficiency
Homonymous hemianopia
Abnormal cochlea morphology
Hemeralopia
Abnormality of the eye
Abnormal macular morphology
Dyskinesia
Talipes
Spotty hypopigmentation
Paronychia
Abnormality of eye movement
Abnormality of peripheral nerve conduction
Abnormal mitochondrial morphology
Severe global developmental delay
Abnormal pyramidal sign
Retinopathy
Edema of the dorsum of hands
Cochlear malformation
Paralytic ileus
Muscular hypotonia of the trunk
Progressive night blindness
Proximal muscle weakness
Cochlear degeneration
Abnormal mitochondrial shape
Hypoglycemia
Kyphoscoliosis
Respiratory failure
Agenesis of corpus callosum
Babinski sign
Patent ductus arteriosus
Hernia
Proximal tubulopathy
Anterior hypopituitarism
Cerebral edema
Muscle cramps
Hyperkalemia
Involuntary movements
Hypertrichosis
Atrial fibrillation
Psychosis
Type II diabetes mellitus
Abnormality of the cardiovascular system
Amenorrhea
Specific learning disability
Hip dysplasia
Sensory impairment
Dentinogenesis imperfecta
Postural instability
Gingival overgrowth
Hirsutism
Polymicrogyria
Visual field defect
Prolonged QT interval
Ichthyosis
Vertebral fusion
Confusion
Dysmetria
Progressive sensorineural hearing impairment
Rhabdomyolysis
Anal atresia
Delayed puberty
Carious teeth
Decreased body weight
Abnormality of retinal pigmentation
Arthrogryposis multiplex congenita
Hypopigmented skin patches
Personality changes
Aortic aneurysm
Hemiplegia
Bilateral ptosis
Hypercalciuria
Decreased nerve conduction velocity
Growth abnormality
Bifid scrotum
Easy fatigability
Goiter
Schizophrenia
Mutism
Mask-like facies
Dysphasia
Reduced tendon reflexes
Macular degeneration
Type I diabetes mellitus
Hypogonadotrophic hypogonadism
Generalized hirsutism
Truncal ataxia
Hemiplegia/hemiparesis
Clonus
Abnormality of neuronal migration
Overlapping toe
Cerebral visual impairment
Bundle branch block
Vestibular dysfunction
Congenital cataract
Pruritus
Retinal pigment epithelial atrophy
Stiff neck
Macrovesicular hepatic steatosis
Infantile encephalopathy
Biventricular hypertrophy
Primary adrenal insufficiency
Distal arthrogryposis
Drowsiness
Atopic dermatitis
Hashimoto thyroiditis
Abnormality of visual evoked potentials
Neonatal hypoglycemia
Axial dystonia
Vitiligo
Xerostomia
Progressive macrocephaly
Heart block
Hypoparathyroidism
Posterior subcapsular cataract
Delusions
Facial diplegia
Aortic dissection
Renal tubular dysfunction
Visual hallucinations
Intestinal obstruction
Acute pancreatitis
Seborrheic dermatitis
Left ventricular failure
Speech apraxia
Cardiogenic shock
Necrotizing encephalopathy
Dilated cardiomyopathy
Diabetes mellitus
Attention deficit hyperactivity disorder
Thyroiditis
Nyctalopia
Protruding ear
Abnormality of the pinna
Anxiety
Photophobia
Gastroesophageal reflux
Autism
Abnormality of immune system physiology
Gait ataxia
Cerebral cortical atrophy
Osteoporosis
Congenital lactic acidosis
Rod-cone dystrophy
Cerebellar hypoplasia
Delayed skeletal maturation
Cerebral atrophy
Hypertonia
Ventriculomegaly
Gait disturbance
Cataract
Hypertelorism
Microcephaly
Exercise-induced lactic acidemia
Acute necrotizing encephalopathy
Abnormal mitochondria in muscle tissue
Sudden cardiac death
Sinus tachycardia
Subvalvular aortic stenosis
Impotence
Abnormal renal physiology
Myelopathy
Constrictive median neuropathy
Multiple myeloma
Restrictive cardiomyopathy
Increased CSF protein
Syringomyelia
Amyloidosis
Decreased number of peripheral myelinated nerve fibers
Orthostatic hypotension
Axonal degeneration
Malnutrition
Rheumatoid arthritis
Urinary retention
Spastic paraparesis
Paraparesis
Abnormal autonomic nervous system physiology
Peripheral demyelination
Neuronal loss in central nervous system
Hypotension
Urinary incontinence
Paraplegia
Facial palsy
Hydrocephalus
Gastrointestinal arteriovenous malformation
Dilatation of celiac artery
Gastrointestinal telangiectasia
Sensory ataxia
Orthostatic hypotension due to autonomic dysfunction
Venous varicosities of celiac and mesenteric vessels
Abnormality of the retinal vasculature
Skin rash
Respiratory tract infection
Arthralgia
Polyclonal elevation of IgM
Cryoglobulinemia
Impaired lymphocyte transformation with phytohemagglutinin
Monoclonal immunoglobulin M proteinemia
Multifocal epileptiform discharges
Retinal hemorrhage
Abnormality of neutrophils
Normocytic anemia
Periorbital edema
Hypercoagulability
Vitreous floaters
Edema of the lower limbs
Raynaud phenomenon
Pulmonary infiltrates
Gingival bleeding
Cutis marmorata
Pleural effusion
Urticaria
Leukemia
Proptosis
Splenomegaly
Neoplasm
Amyloid deposition in the vitreous humor
Cardiac amyloidosis
Dilatation of mesenteric artery
Nail bed telangiectasia
Mitral regurgitation
Amblyopia
Retinal telangiectasia
Mucosal telangiectasiae
Peripheral arteriovenous fistula
Abnormality of cardiovascular system physiology
Visceral angiomatosis
Intestinal polyposis
Abnormality of the cerebral vasculature
Arteriovenous malformation
Telangiectasia of the skin
Microcytic anemia
Cholelithiasis
Venous thrombosis
Nephrolithiasis
Elevated alkaline phosphatase
Hepatic vascular malformations
Retinal vascular malformation
Retrobulbar optic neuritis
Varicocele
Neuritis
Capillary hemangioma
Abnormality of the musculature
Intracranial hemorrhage
Hemangioma
Focal-onset seizure
Abnormality of the skin
Lower limb muscle weakness
Paralysis
Ascites
Clubbing
Fingerpad telangiectases
Cerebral arteriovenous malformation
Visual auras
Nasal mucosa telangiectasia
High-output congestive heart failure
Tongue telangiectasia
Palate telangiectasia
Arteriovenous fistulas of celiac and mesenteric vessels
Hepatic arteriovenous malformation
Spinal arteriovenous malformation
Pulmonary arteriovenous malformation
Brain abscess
Right-to-left shunt
Hemangiomatosis
Lip telangiectasia
Scleroderma
Gastrointestinal angiodysplasia
Pulmonary hemorrhage
Polycystic liver disease
Focal sensory seizure
Arteriovenous fistula
Spontaneous, recurrent epistaxis
Melena
Hematemesis
Migraine with aura
Hypoxemia
Hematochezia
Thrombocytosis
Polycythemia
Myocardial infarction
Cholestasis
Precocious atherosclerosis
Scarring
Intellectual disability, profound
Lumbar hyperlordosis
Microdontia
Decreased testicular size
Waddling gait
Neutropenia
Bulbous nose
Abnormality of skin pigmentation
Astigmatism
Platyspondyly
Hip dislocation
Corneal opacity
Hyperlordosis
Abnormal lung morphology
Abnormality of the kidney
Thin upper lip vermilion
Osteopenia
Thrombocytopenia
Immunodeficiency
Myopia
Depressed nasal bridge
Scoliosis
Basal ganglia necrosis
Global systolic dysfunction
Lacticaciduria
Weakness of facial musculature
Abnormality of thalamus morphology
Fine hair
Abnormal form of the vertebral bodies
EEG with photoparoxysmal response
Spondyloepiphyseal dysplasia
Villous atrophy
B-cell lymphoma
Disproportionate short-trunk short stature
Ovoid vertebral bodies
Thoracic kyphosis
Protuberant abdomen
Multiple cafe-au-lait spots
Steatorrhea
Hypermelanotic macule
Combined immunodeficiency
High pitched voice
Emphysema
Melanocytic nevus
Heterotopia
Nephritis
Glomerulonephritis
Epiphyseal dysplasia
Glomerulosclerosis
Encephalitis
Coarse hair
Reduced bone mineral density
Azoospermia
Hyperlipidemia
Opacification of the corneal stroma
Bone marrow hypocellularity
Lymphopenia
Abnormality of epiphysis morphology
EEG with irregular generalized spike and wave complexes
Fatty replacement of skeletal muscle
Decreased liver function
Recurrent pharyngitis
Cervical lymphadenopathy
CSF pleocytosis
Conjunctival hyperemia
Abnormal pericardium morphology
Arteritis
Glossitis
Abnormal oral mucosa morphology
Ascending tubular aorta aneurysm
Synovitis
Cheilitis
Elevated C-reactive protein level
Inflammatory abnormality of the eye
Abnormal myocardium morphology
Arthralgia/arthritis
Allergy
Myocarditis
Aortic root aneurysm
Acute kidney injury
Pericarditis
Abnormal heart valve morphology
Interstitial pulmonary abnormality
Coronary artery atherosclerosis
Leukocytosis
Scaling skin
Hypoalbuminemia
Conjunctivitis
Meningitis
Abnormality of nail color
Pyuria
Diffuse cerebellar atrophy
Mildly elevated creatine phosphokinase
Cytochrome C oxidase-negative muscle fibers
Abnormality of brainstem morphology
Increased serum pyruvate
Abnormal echocardiogram
Portal fibrosis
Supraventricular tachycardia
Abnormality of the endocrine system
Diffuse cerebral atrophy
Intrahepatic cholestasis
Motor axonal neuropathy
Ventricular extrasystoles
Lipoma
Muscle fibrillation
Right bundle branch block
Abnormal emotion/affect behavior
Sensory axonal neuropathy
EMG: myopathic abnormalities
Delayed gross motor development
Ventricular tachycardia
Palpitations
Sensory neuropathy
Abnormality of the cerebral white matter
Behavioral abnormality
Hypoplasia of the corpus callosum
Abnormal gallbladder morphology
Aseptic leukocyturia
Strawberry tongue
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
Prominent ear helix
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Myopia and Nephrotic syndrome, related diseases and genetic alterations
Intellectual disability, severe and Micromelia, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more